Genetic or hereditary diseases

Amyotrophia (5)
Chromosomal aberration (1)
Cystic fibrosis (17)
Genetic disease (4)
Mongolism (5)
Muscular dystrophy (8)
Thrombasthenia (1)

Synopsis: 5. medicine & health: 1. diseases: Diseases: Genetic or hereditary diseases:

an inherited disorder that leads to nerve damage and dementia, when they stumbled on their findings quite by accident.

Americans Feel Most Attractive at This Age Medieval case of down syndrome: The skeleton of a child uncovered in 1989 in northeastern France is believed to be known the oldest case of Down syndrome.

Researchers not only studied the remains but also the burial practices used for the body to understand how the child was treated by the community.

Earliest Case of Down syndrome Discovered in Medieval Cemetery Remains of lost temple found: A 2500-year-old temple unearthed in northern Iraq may be lost a long temple to the god Haldi.

Researchers from the United states and India used strips of cured pork meat to treat uncontrollable nosebleeds in a 4-year-old with Glanzmann thrombasthenia a rare blood disorder that causes easy

The company revealed in April that data supporting a prenatal screen for Down's syndrome were mishandled and could not be relied on (see Nature 459,23;

works with mouse models of muscular dystrophy at Ohio State university in Columbus. She declined an interview request.

(or male) and that the other side would have a some kind of chromosomal anomaly. Instead, they found the chickens to be almost perfectly split between male and female.

Growth factor makes a comeback in cystic fibrosis: Nature Newsthe stunted development common to cystic fibrosis begins at birth

and could be a direct consequence of a growth-hormone deficiency caused by the disease. In both people and pigs, newborns with cystic fibrosis tend to have abnormally low levels of a hormone called insulin-like growth factor 1 (IGF1),

according to a study published this week in the Proceedings of the National Academy of Sciences1.

whether a patient with cystic fibrosis will have growth problems later in life, says David Stoltz, a physician in the Department of Internal medicine at the University of Iowa, Iowa City,

Cystic fibrosis is a deadly genetic disease: many patients don't live past the age of 30. Scientists identified the culprit gene some two decades ago (see'Human genetics:

In the 1990s, researchers found that individuals with cystic fibrosis have low levels of IGF1 in their blood2,

and growth problems are caused not directly by the cystic fibrosis gene, but rather are by-products of malnutrition and lung inflammation.

Stoltz and his collaborators took advantage of a pig model of cystic fibrosis that they debuted in 20084.

The researchers then screened for IGF1 in samples of dried blood from 23 human newborns with cystic fibrosis.

The cystic fibrosis gene CFTR codes for a protein called the cystic fibrosis transmembrane regulator, which helps to move chloride ions across cell membranes.

that problems with insulin secretion associated with cystic fibrosis are stalled responsible for the IGF1 production in newborns insulin regulates the production of IGF1 in the liver in utero and throughout life.

In any case, the findings point to IGF1 as a potential therapy for cystic fibrosis particularly because regulators in the United states and Europe have approved already synthetic IGF1 for the treatment of severely short stature.

which IGF1 is being administered to adults with cystic fibrosis. But before rushing to treat infants with the hormone,

ALS prize American neurologist Seward Rutkove has won a US$1-million prize for creating a noninvasive tool that tracks the progress of the neurodegenerative disease amyotrophic lateral sclerosis (ALS.

As the United states first genetically engineered (GE) pigs with muscular dystrophy, the creatures could be used to test treatments for the disease.

and pharmaceutical laboratories, has bred so far about 275 Â pigs some with cystic fibrosis, others with heart disease, arrhythmia or cancer,

and now muscular dystrophy. Because pigs mimic these human diseases more closely than mice, they are desirable models for drug testing

In 2009, the company submitted its first application to the FDA for approval of its cystic fibrosis pig model."

Dystrophy drug hope The experimental drug eteplirsen may help patients with Duchenne muscular dystrophy (DMD), a clinical trial of 12 boys with the condition reported on 3 october.

including Alzheimer s disease, cancer and muscular dystrophy. This work will be enriched by the discovery, reported in the genome paper,

Verinata Health, based in Redwood City, California, markets a test for chromosomal abnormalities, such as Down s syndrome,

In addition to tracheobronchomalacia pigs have been biomedical models for muscular dystrophy diabetes and other diseases. The team chose to use two-month-old pigs for this study

Over the past 20 years he said researchers have linked that aggregation process pretty convincingly to the development of diseases--Alzheimer's disease Lou gehrig's disease Huntington's disease to name a few.

Over the past 20 years he said researchers have linked that aggregation process pretty convincingly to the development of diseases--Alzheimer's disease Lou gehrig's disease Huntington's disease to name a few.

promote muscle repairmany diseases--obesity Type 2 diabetes muscular dystrophy--are associated with fat accumulation in muscle.

and muscular dystrophy the researchers injected glycerol into healthy mice to induce fat accumulation in the muscle.

or delay the onset of amyotrophic lateral sclerosis (ALS). The study published by Wiley in Annals of Neurology a journal of the American Neurological Association

According to the National Institutes of Neurological disorders and Stroke (NINDS) roughly 20000 to 30000 Americans have known ALS#lso as Lou gehrig s disease#nd another 5000 patients are diagnosed annually with the disease.

At two months old the girl was diagnosed with Alpha 1-antitrypsin antitrypsin deficiency an inherited disorder that causes liver disease.

or drug abuse the condition--marked by scar tissue replacing healthy liver tissue--also can result from viral hepatitis obesity and diabetes as well as certain inherited diseases.

but can cause opportunistic or hospital-acquired infections in people with weakened immune systems or with cystic fibrosis.

People who have this inherited disease endure progressive damage to the heart, brain, and other organs,

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